I bruise awlsam em? I thisen a chhuak awlsam lo em ni? Glanzmann Thrombasthenia (GT) chungchang hi han sawi ila!

Nang emaw i fa emaw hian hliam tenau tak atanga thisen chhuah tihtawp nan hun rei tak i hmang em? A nih loh leh i taksa pum puiah blue spot (bruise) i nei mai mai em? A châng chuan hengte hi thil pangngai angin a lang a, mahse a châng chuan ngaihtuahawm tak a ni thei bawk. Chu chu vawiin a kan sawi tur dinhmun chu a ni a, Glanzmann Thrombasthenia (GT) tih chu a ni. Ngaihtuah buai suh, engkim hi awlsam takin kan vawng ang.

Glanzmann Thrombasthenia (GT) hi eng nge ni?

A awlsam zawngin sawi ila, Glanzmann Thrombasthenia (GT) hi hun rei tak (i.e. dam chhung) a ni a, awlsam takin i hliam a, thisen chhuah pawh tihtawp a harsat phah bawk. A chhan ber chu kan thisena platelet , thisen zam tura puitu cell te tak te te a buaina a ni.

Ngaihtuah teh, GT i neih chuan i taksaa genetic mutation a awm avangin heng platelet te hian thisen zam chhuahna atana mamawh key protein an siam lo. Chumi avang chuan thisen zawi zawiin a awm thin. A rah chhuah chu thisen i chhuah nasa hle. He thisen chhuah zat hi mi hrang hrangah a inang lo thei. Mi thenkhat tan chuan hei hi thisen chhuahna tenau, in lama enkawl theih a ni thei. Midang tan chuan a nasat lutuk avangin emergency treatment a ngai thei bawk .

Glanzmann Thrombasthenia (GT) hi engtiang chiahin nge a awm?

Glanzmann Thrombasthenia (GT) hi a takah chuan natna hlauhawm tak a ni. Damdawi lam mithiamte sawi dan chuan khawvel puma mi maktaduai khat zinga pakhat chauh hi he natna nei hi an piang a ni.

Mahse, khawtlang thenkhatah chuan he genetic variation hi thlah khat atanga thlah dangah a darh zel a, hei hi a tam deuh hlek a ni. Chu chu, chutiang khawtlangah chuan mi sang hnih zinga pakhat velin he dinhmun hi an hmu thei tihna a ni. Hetiang GT natna vei naute piang hi Middle East ram thenkhatah te, Canada rama Newfoundland leh Labrador province-ah te, France rama Romani community zingah te a tam hle niin an sawi.

Glanzmann Thrombasthenia (GT) natna lan chhuah dan chu engte nge ni?

GT i neih chuan midang hliam inang an neih chuan thisen a chhuak tam zawk thei. A nih loh leh, beisei loh takin leh chhan hriat lohvin thisen i chhuak ṭan thei bawk.

Glanzmann Thrombasthenia (GT) natna lan chhuah dan tlangpui chu:

• Bruising awlsam tak: Bump te tak te pawh hian bruise lian tak a siam thei.
• Bleeding gums: I ha i sil hian awlsam takin i hmui a thisen a chhuak thei.
• Hnar thisen chhuak fo (epistaxis): Mi thenkhat chuan kar khatah vawi tam tak hnar thisen an nei thei a, ding ringawt pawh nise.
• Vunah purple spot emaw patches (purpura): Hengte hi bruise pangngai nen a danglam a, spot lian zawk pawh a ni thei.
• Vunah hian dot te te, purple, brown, emaw red (petechiae): Hengte hi pin-in a hliam ang maia dot te te an ni.
• Menorrhagia: Hmeichhiaah thlasik laiin thisen chhuak tam lutuk: Thisen chhuah dan pangngai aia rit zawk.

GT-ah chuan vun hliam (cut ang chi) emaw, mucous membrane (hnar chhung emaw, hmui chhung emaw) atanga thisen chhuak aiin chhungril lama thisen chhuak hi a tlem zawk hle.

Engvangin nge Glanzmann Thrombasthenia (GT) hi a lo awm? A chhante chu engte nge ni?

Glanzmann Thrombasthenia (GT) vei nausen piangte hian thisen platelets clot tura puitu integrin alpha IIb/beta 3 an tih protein siamtu gene-ah defect, a nih loh leh mutation , an rochun a ni. GT nei tur chuan naupangin a nu leh pa hnen atangin gene chhia chu a rochun a ngai a ni. Hei hi autosomal recessive inheritance an ti a .

Vawi tam tak chu nu leh pate hian he gene chhia hi kengtu an ni tih an hre lo. Hei hi a chhan chu symptoms lantir nan gene defective pahnih a mamawh vang a ni. Carrier chu gene pangngai pakhat leh gene chhia pakhat nei a ni.

Nu leh pa pahnih hi carrier an nih chuan GT vei fa neih theihna chance 25% an nei a ni.

A hnu lama lo awm tan Glanzmann Thrombasthenia (GT) .

Mi thenkhat chuan nakin lawkah GT an nei thei. Hei hi a tlem hle. Chutiang chu thleng thei mah se, damdawi lam mithiamte chuan Glanzmann Thrombasthenia (GT) hi pianpui thisen chhuahna natna (congenital bleeding disorder) tiin an la dah reng a ni .

Hei hi GT hi a hnuah a lo thanglian dan a ni a, i taksain a chunga kan sawi tak integrin alpha IIb/beta 3 protein laka antibody a siam hian. Natna thenkhat, damdawi thenkhat phei chuan hetiang hi a thlen thei a ni. Mahse a rah chhuah chu a inang tho. Active protein a tlem avangin i platelet te chu a clot theih nan hun a duh rei zawk.

Glanzmann Thrombasthenia (GT) natna avanga harsatna awm thei te chu engte nge ni?

Hmeichhia hian thlasik laiin thisen chhuak nasa tak avangin iron-deficiency anemia an nei thei a ni. A nasat chuan GT hian thisen chhuahna (hemorrhaging) na tak, nunna atana hlauhawm tak a thlen thei a ni. Hetiang hlauhawmna hi thisen chhuahna nasa tak hun chhung, nau neih emaw, operation emaw-ah a sang hle .

Mahse lungngai suh, GT i vei tih hmuhchhuah a nih chuan i doctor chuan heng harsatna te hi ven nan a tul angin hma a la thei ang.

Engtin nge Glanzmann Thrombasthenia (GT) i vei tih chiang taka i hriat theih ang? (Diagnosis) tih a ni.

Doctor ten GT an hriat theih nan test hrang hrang an hmang thin. Naupan lai atanga hmuhchhuah a ni fo. Nu leh pa i nih angin i fa chu a hliam awlsam a, hnar thisen a chhuak fo emaw, thisen a chhuah loh nan hun rei tak a hmang emaw a nih chuan i fa chu doctor hnenah hruai i duh mai thei. A châng chuan, naupang nunah hun pawimawh takah, entîr nân:

• Naupang serhtan lai hian.
• Naute ha hmasa ber a tlak chhuah chuan.
• Hmeichhia a nih chuan a period hmasa ber (menarche) a thlen veleh a ni.

Hetih lai hian thisen chhuah tam lutuk emaw, thisen chhuak reng reng emaw i hmu thei. Glanzmann Thrombasthenia (GT) vei zinga 80% aia tam chu kum 14 an tlin hmain hmuhchhuah an ni a, mi tam tak chu kum 5 an tlin hmain hmuhchhuah an ni a, puitling anga GT vei hmuhchhuah tawhte chuan hliam na tak emaw, accident emaw an neih hma loh chuan an vei tih an hre lo mai thei.

Hemi atan hian eng test nge tih a nih?

Doctor-te chuan thisen test hmangin Glanzmann Thrombasthenia (GT) an nei tih an hmuchhuak. Heng test-te hian harsatna a lantir thei a:

• I platelets: Thisen count kimchang (CBC) test hmangin i platelet count a normal em tih a enfiah thei ang. Peripheral blood smear hmangin an hmel danglam em tih pawh a enfiah thei bawk.
• I thisen a zam that dan: Test engemaw zat, Prothrombin Time (PT) test leh Partial Thromboplastin Time (PTT) test te hian i thisen a khalh chak dan leh tha taka a teh theih a ni. Hengte hian thisen chhuahna lama natna tlanglawn zawk, GT ang chi symptom nei (e.g., von Willebrand disease, Bernard-Soulier syndrome) te pawh a paih chhuak thei bawk.
• Integrin alpha IIb/beta3: Flow cytometry leh monoclonal antibody panels ang chi test te hian he protein hi tlakchhamna emaw, chhiatna emaw i neih leh neih loh a hriat theih. He protein hi beitu antibodies i neih leh neih loh pawh an hre thei bawk.
• I genes: Genetic test hmangin GT thlentu genetic mutations (genes `ITGA2B` leh `ITGB3` tia koh) i nei em tih a finfiah thei.

Glanzmann Thrombasthenia (GT) hi eng enkawlna nge ni?

GT i vei tih hmuhchhuah a nih chuan i doctor chuan thisen chhuah theihna tihtlem dan tur a hrilh ang che. Hematologist nen hna i thawh a ngai mai thei . Thisen chhuah lohna tura i tih theihte bakah hian enkawlna chu i thisen chhuah nasat danah a innghat ang.

Thisen chhuahna tenau leh thisen chhuak tlem tan

Chutiang natna enkawl dan tur chu:

• Compression: I doctor chuan hliam atanga thisen chhuak tihtlem nan leh hnar thisen tenau te tihtawp nan pressure pek dan tur a zirtir ang che. Hnar thisen chhuak nasa tak tan chuan i doctor chuan i hnar chhungah gauze emaw foam emaw ang chi thil a dah thei a, chu chuan thisen chhuah a titawp thei (nasal packing).
• Damdawi: Thisen zam tura pui turin fibrin sealant (thisen glue ang chi), gelatin foam, topical thrombin, leh antifibrinolytic agents te i mamawh mai thei.

Thisen chhuak nasa tak tan

Glanzmann Thrombasthenia (GT) vanga thisen chhuak nasa tak chu emergency treatment a ngai a ni . Enkawlna hrang hrangte chu:

• Platelet transfusion: Thisen chhuak nasa tak tihtawp nan, emaw, operation lian tak emaw, nau neih hma emawa thisen tlakchhamna tur ven nan platelet pek i ngai mai thei. Hei hian donor hrisel tak hnen atanga platelet pek che a huam a ni.
• Red blood cell transfusion: Thisen tam tak i hloh tawh a nih chuan chutiang zat chu tihpun leh turin red blood cell pek i ni bawk.
• Recombinant coagulation factor VIIa (rFVIIa): He damdawi hi platelet pekna atana i tha lo a nih chuan a mamawh mai thei.
• Hematopoietic stem cell transplant: Stem cell transplant hi GT damdawi awmchhun a ni. Hei hi GT natna khirh tak, hmanraw dang hmanga control theih loh tan chuan duhthlan tur a ni thei. Hetah hian donor atanga stem cells te chu i taksaah inject a ni.

Enkawlnaah hian harsatna a awm em?

Ni e, a dik tak zet a ni. Platelet dawngtu zinga 20% leh 30% inkar chuan hun kal zelah antibody an nei thin. Chumi awmzia chu platelet thar an dawnte hian hna a thawk dawn lo tihna a ni. Chutiang a nih chuan enkawlna dang, rFVIIa injection ang chi i pan a ngai dawn a ni. Mahse chu damdawi chuan hlauhawmna engemaw zat a nei bawk. Entirnan, i thisen a tikhawlo lutuk thei a ni.

Stem cell transplant hian Glanzmann Thrombasthenia (GT) a tidam thei a, mahse i taksa nena inmil tur zawn chu thil harsa tak a ni thei. GT atana stem cell transplant-ah chuan donors te hi unau an ni fo thin. Match hmuh a nih pawhin i taksain donor cells a hnawl theihna a awm. Hetiang dinhmun hi Graft versus Host Disease (GvHD) tih a ni.

I doctor-in enkawlna kawng hrang hrang a sawipui che chuan, a hlauhawmna leh a hlawkna chu a hmain a hrilhfiah ang che.

GT nei hian eng ang hmalam hun nge a beisei theih ang?

Glanzmann Thrombasthenia (GT) vei mi pahnih, chhungkaw khat atanga lo piang leh genetic mutation inang nei pawh ni se, he natna hi a danglam bik lo. Thisen chhuah zat leh i dinhmun enkawlna atana i tih tur chu i dinhmun bik a zirin a innghat ang.

Thu lawmawm tak chu, enkawl dan dik tak a awm chuan Glanzmann Thrombasthenia (GT) vei tam zawk chuan nun pangngaiin nunphung pangngaiin an hmang a ni. A then phei chuan an upat deuh deuh chuan thisen chhuah zat pawh a tlahniam thei bawk.

Engtin nge GT nen hian ka khawsak tha theih ang? (Ka in enkawl dan tur) .

GT i neih chuan i doctor nen thawk ho la, thisen chhuah leh thisen tlakchhamna nasa tak i neih theihna tur a tihziaawm ang. Hengte hi i ti tur a ni:

• Eng damdawi nge i ei loh tur tih chiang takin hre rawh.Thisen tithianghlimtu (aspirin leh NSAID dang ang chi) leh i doctor-in ei loh tura a tih damdawi dangte lakah hian inthiarfihlim tur a ni.
• I hmui hriselna hi uluk takin enkawl rawh. Nitin ha silfai leh flossing te, ha enkawltu hmuh fo hian ha zung thisen chhuah theihna a ti tlem thei a ni.
• I hnar pawh uluk takin enkawl rawh. I hnar chhung lam a hnim reng hian hnar thisen chhuah theihna a ti tlem thei a ni. Humidifier i hmang thei a, nasal spray i hmang thei bawk a, i hnar chhungah Vaseline tlem i hnawih thei bawk a, a vawt loh nan.
• Thlasik thisen chhuak nasa tak chu enkawl rawh. Hormonal birth control hman hian period rit tak tak a veng thei a ni. Hemi chungchang hi i gynecologist nen inbia ang che.
• Medic alert bracelet vuah tur a ni. Emergency-a thisen chhuahna lama harsatna nei nia i inhriat theih nan ID card keng fo ang che. I nunna a chhanhim thei a ni.
• Thisen chhuak episode i neih chuan eng nge i tih tur tih ruahmanna siam rawh. In lama enkawl hun tur leh Doctor pan nghal tur tih hre nghal rawh. Tute nge biak tur leh khawiah nge kal tur tih hre rawh. Chutiang chuan inenkawlna lak a tlai tawh lovang.

Engtikah nge Doctor ka hmuh ang?

Nangmah emaw, i fa emaw hian thisen chhuah awlsamna chhinchhiahna i lantir a nih chuan Doctor pan rawh. Bruising leh hnar thisen chhuak hi a awm fo thin. Mahse heng symptoms te hi a lo lang fo a nih chuan, emaw, thisen chhuahna chu a tawp theih nan hun rei tak a ngai a nih chuan – doctor pan ngei ngei tur a ni.

Engtikah nge Emergency Treatment Unit (ETU) ah i kal ang ?

Thisen chhuak i tihtawp theih loh i neih chuan, thlasik laiin thisen chhuak nasa tak pawh a tel a nih chuan, doctor pan tura appointment siam lovin emergency department (ETU) -ah kal nghal rawh. Fimkhur tur chhinchhiahna te chu:

• Darkar khat chhung pawh a tawp lo hnar thisen chhuak.
• Darkar hnih emaw a aia rei emaw chhunga thlasik luang rit tak, darkar khatah tampon pahnih emaw pad pahnih emaw hnim hring.

Doctor zawh tur zawhna pawimawh

Hetiang zawhna hi zawh theihnghilh suh:

• Ka dinhmun hriat theih nan eng test nge tih tur?
• Eng ang enkawlna nge ka mamawh?
• Ka dinhmun enkawl turin eng nunphung tihdanglam nge ka tih theih ang?
• Ka fa hian he GT condition hi a rochun theihna chance engzat nge ni?
• Naupai ka ngaihtuah a nih chuan genetic test neih i rawt em?

GT vei te hi platelet count hi a normal em?

Glanzmann Thrombasthenia (GT) ah hian platelet count hi a pangngai tlangpui.Buaina chu platelet awm zat a ni lo. Chu ai chuan platelet te inzawm khawmna tura puitu protein avanga harsatna a ni a, chu chuan platelet te chu a ti clotting tha thei lo.

Glanzmann Thrombasthenia (GT) leh Bernard-Soulier syndrome (BSS) te hi eng nge an danglamna?

Glanzmann Thrombasthenia (GT) leh Bernard-Soulier syndrome (BSS) te hi genetic condition awm lo tak tak an ni a, i thisen zam dan a nghawng a ni. Mahse gene mutation hrang hrang avanga lo awm an ni. I thisen platelet-a harsatna bikte pawh a inang lo. BSS vei te hian platelet count hniam leh platelet lian lo tak tak an nei ve ve thei bawk.

Kan sawiho tawh a\anga hriat reng tur pawimawh ber berte (Take-Home Message) .

Glanzmann Thrombasthenia (GT) hi dam chhung zawnga natna a ni a, nang leh i hematologist hian uluk taka enkawl a ngai a ni. GT hmang hian i thisen chhuahna chu engtiang chiahin nge a nasat (or minor) dawn tih sawi theih a ni lo. Mahse, thisen chhuah tlem zawkna tura hma i lak chuan i hrisel theih nan a pui thei a ni. I GT a nasat chuan platelet transfusion ang chi enkawlna pawhin a pui thei bawk.

Hetiang natna neia piang hi i thunun theih loh laiin, i nunphung tibuai lo zawnga enkawl dan tur option i nei tih hre reng ang che. Damdawi lam thurawn zawng hlau suh la, mahni in enkawl tha rawh. Tichuan he dinhmun hi i nung thei ngei ang.

` Glanzmann thrombasthenia, GT, thisen chhuah, thisen platelet, genetic natna, hliam, thisen chhuah harsatna, platelet